-
1
-
-
0028954446
-
Steroid 21-hydroxylase deficiency (congenital adrenal hyperplasia)
-
New M 1995 Steroid 21-hydroxylase deficiency (congenital adrenal hyperplasia). Am J Med 98(suppl A):2S-8S
-
(1995)
Am J Med
, vol.98
, Issue.SUPPL. A
-
-
New, M.1
-
3
-
-
0031910562
-
Molecular genetics of congenital adrenal hyperplasia (21-hydroxylase deficiency): Implications for diagnosis, prognosis and treatment
-
Wedell A 1998 Molecular genetics of congenital adrenal hyperplasia (21-hydroxylase deficiency): implications for diagnosis, prognosis and treatment. Acta Paediatr 87:159-164
-
(1998)
Acta Paediatr
, vol.87
, pp. 159-164
-
-
Wedell, A.1
-
4
-
-
0028208951
-
Mutational spectrum of the steroid 21-hydroxylase gene in Sweden: Implications for genetic diagnosis and association with disease manifestation
-
Wedell A, Thilen A, Ritzen EM, Stengler B, Luthman H 1994 Mutational spectrum of the steroid 21-hydroxylase gene in Sweden: implications for genetic diagnosis and association with disease manifestation. J Clin Endocrinol Metab 78:1145-1152
-
(1994)
J Clin Endocrinol Metab
, vol.78
, pp. 1145-1152
-
-
Wedell, A.1
Thilen, A.2
Ritzen, E.M.3
Stengler, B.4
Luthman, H.5
-
5
-
-
0029162371
-
Steroid 21-hydroxylase deficiency: Genotype may not predict phenotype
-
Wilson R, Mercado A, Cheng K, New M 1995 Steroid 21-hydroxylase deficiency: genotype may not predict phenotype. J Clin Endocrinol Metab 80:2322-2329
-
(1995)
J Clin Endocrinol Metab
, vol.80
, pp. 2322-2329
-
-
Wilson, R.1
Mercado, A.2
Cheng, K.3
New, M.4
-
6
-
-
0026020826
-
Distribution of deletions and seven point mutations on CYP21B genes in three clinical forms of steroid 21-hydroxylase deficiency
-
Mornet E, Crete P, Kuttenn F, Raux-Demay MC, Boue J, White PC, Boue A 1991 Distribution of deletions and seven point mutations on CYP21B genes in three clinical forms of steroid 21-hydroxylase deficiency. Am J Human Genet 48:79-88
-
(1991)
Am J Human Genet
, vol.48
, pp. 79-88
-
-
Mornet, E.1
Crete, P.2
Kuttenn, F.3
Raux-Demay, M.C.4
Boue, J.5
White, P.C.6
Boue, A.7
-
7
-
-
0029034192
-
Rapid deoxyribonucleic acid analysis by allele-specific polymerase chain reaction for detection of mutations in the steroid 21-hydroxylase gene
-
Wilson RC, Wei JQ, Cheng KC, Mercado AB, New MI 1995 Rapid deoxyribonucleic acid analysis by allele-specific polymerase chain reaction for detection of mutations in the steroid 21-hydroxylase gene. J Clin Endocrinol Metab 80:1635-1640
-
(1995)
J Clin Endocrinol Metab
, vol.80
, pp. 1635-1640
-
-
Wilson, R.C.1
Wei, J.Q.2
Cheng, K.C.3
Mercado, A.B.4
New, M.I.5
-
8
-
-
0023749845
-
Characterization of frequent deletions causing steroid 21-hydroxylase deficiency
-
White PC, Vitek A, Dupont B, New MI 1988 Characterization of frequent deletions causing steroid 21-hydroxylase deficiency. Proc Natl Acad Sci U S A 85:4436-4440
-
(1988)
Proc Natl Acad Sci U S A
, vol.85
, pp. 4436-4440
-
-
White, P.C.1
Vitek, A.2
Dupont, B.3
New, M.I.4
-
9
-
-
0032912699
-
Significance of genetic testing for paternal uniparental disomy of chromosome 6 in neonatal diabetes mellitus
-
Christian SL, Rich BH, Loebl C, Israel J, Vasa R, Kittikamron K, Spiro R, Rosenfield R, Ledbetter DH 1999 Significance of genetic testing for paternal uniparental disomy of chromosome 6 in neonatal diabetes mellitus. J Pediatr 134:42-46
-
(1999)
J Pediatr
, vol.134
, pp. 42-46
-
-
Christian, S.L.1
Rich, B.H.2
Loebl, C.3
Israel, J.4
Vasa, R.5
Kittikamron, K.6
Spiro, R.7
Rosenfield, R.8
Ledbetter, D.H.9
-
10
-
-
0032231561
-
Uniparental disomies in unselected populations
-
Engel E 1998 Uniparental disomies in unselected populations. Am J Hum Genet 63:962-966
-
(1998)
Am J Hum Genet
, vol.63
, pp. 962-966
-
-
Engel, E.1
-
12
-
-
0032511751
-
Systematic search for uniparental disomy in early fetal losses: The results and a review of the literature
-
Shaffer LG, McCaskill C, Adkins K, Hassold TJ 1998 Systematic search for uniparental disomy in early fetal losses: the results and a review of the literature [In Process Citation]. Am J Med Genet 79:366-372
-
(1998)
Am J Med Genet
, vol.79
, pp. 366-372
-
-
Shaffer, L.G.1
McCaskill, C.2
Adkins, K.3
Hassold, T.J.4
-
13
-
-
7344254106
-
A catalogue of imprinted genes and parent-of-origin effects in humans and animals
-
Morison IM, Reeve AE 1998 A catalogue of imprinted genes and parent-of-origin effects in humans and animals. Hum Mol Genet 7:1599-1609
-
(1998)
Hum Mol Genet
, vol.7
, pp. 1599-1609
-
-
Morison, I.M.1
Reeve, A.E.2
-
14
-
-
0031565929
-
Role of imprinting in abnormal human development
-
Mutter GL 1997 Role of imprinting in abnormal human development. Mutat Res 396:141-147
-
(1997)
Mutat Res
, vol.396
, pp. 141-147
-
-
Mutter, G.L.1
-
15
-
-
0029074375
-
Uniparental disomy and genomic imprinting as causes of human genetic disease
-
Cassidy SB 1995 Uniparental disomy and genomic imprinting as causes of human genetic disease. Environ Mol Mutagen 25:13-20
-
(1995)
Environ Mol Mutagen
, vol.25
, pp. 13-20
-
-
Cassidy, S.B.1
-
16
-
-
0023897290
-
Uniparental disomy as a mechanism for human disease
-
Spence JE, Perciaccante RG, Greig GM, Willard HM, Ledbetter DH, Hejmancik JF, Pollack MS, O'Brien WE, Beaudet AL 1988 Uniparental disomy as a mechanism for human disease. Am J Human Genet 42:217-226
-
(1988)
Am J Human Genet
, vol.42
, pp. 217-226
-
-
Spence, J.E.1
Perciaccante, R.G.2
Greig, G.M.3
Willard, H.M.4
Ledbetter, D.H.5
Hejmancik, J.F.6
Pollack, M.S.7
O'Brien, W.E.8
Beaudet, A.L.9
-
17
-
-
0024463137
-
Isodisomy of chromosome 7 in a patient with cystic fibrosis: Could uniparental disomy be common in humans?
-
Voss R, Ben-Simon E, Avital A, Godfrey S, Zlotogora J, Dagan J, Tikochinski Y, Hillel J 1989 Isodisomy of chromosome 7 in a patient with cystic fibrosis: could uniparental disomy be common in humans? Am J Human Genet 45:373-380
-
(1989)
Am J Human Genet
, vol.45
, pp. 373-380
-
-
Voss, R.1
Ben-Simon, E.2
Avital, A.3
Godfrey, S.4
Zlotogora, J.5
Dagan, J.6
Tikochinski, Y.7
Hillel, J.8
-
18
-
-
0031036182
-
Uniparental disomy of the entire X chromosome in a female with Duchenne muscular dystrophy
-
Quan F, Janas J, Toth-Fejel S, Johnson DB, Wolford JK, Popovich BW 1997 Uniparental disomy of the entire X chromosome in a female with Duchenne muscular dystrophy. Am J Human Genet 60:160-165
-
(1997)
Am J Human Genet
, vol.60
, pp. 160-165
-
-
Quan, F.1
Janas, J.2
Toth-Fejel, S.3
Johnson, D.B.4
Wolford, J.K.5
Popovich, B.W.6
-
19
-
-
0029991428
-
Uniparental maternal disomy 6 in a renal transplant patient
-
van den Berg-Loonen EM, Savelkoul P, van Hooff H, van Eede P, Riesewijk A, Geraedts J 1996 Uniparental maternal disomy 6 in a renal transplant patient. Human Immunol 45:46-51
-
(1996)
Human Immunol
, vol.45
, pp. 46-51
-
-
Van Den Berg-Loonen, E.M.1
Savelkoul, P.2
Van Hooff, H.3
Van Eede, P.4
Riesewijk, A.5
Geraedts, J.6
-
20
-
-
0029794055
-
Further evidence for an imprinted gene for neonatal diabetes localized to chromosome 6q22-q23
-
Temple IK, Gardner RJ, Robinson DO, Kibirige MS, Ferguson AW, Baum JD 1996 Further evidence for an imprinted gene for neonatal diabetes localized to chromosome 6q22-q23. Human Mol Genet 8:117-121
-
(1996)
Human Mol Genet
, vol.8
, pp. 117-121
-
-
Temple, I.K.1
Gardner, R.J.2
Robinson, D.O.3
Kibirige, M.S.4
Ferguson, A.W.5
Baum, J.D.6
-
21
-
-
0030873772
-
Paternal uniparental isodisomy of chromosome 6 in transient neonatal diabetes mellitus
-
Hermann R, Soltész G 1997 Paternal uniparental isodisomy of chromosome 6 in transient neonatal diabetes mellitus (letter). Eur J Pediatr 156:740
-
(1997)
Eur J Pediatr
, vol.156
, pp. 740
-
-
Hermann, R.1
Soltész, G.2
-
22
-
-
0031057955
-
Paternal uniparental disomy for chromosome 6 causes transient neonatal diabetes
-
Whiteford ML, Narendra A, White MP, Cooke A, Wilkinson AG, Robertson KJ, Tolmie JL 1997 Paternal uniparental disomy for chromosome 6 causes transient neonatal diabetes. J Med Genet 34:167-168
-
(1997)
J Med Genet
, vol.34
, pp. 167-168
-
-
Whiteford, M.L.1
Narendra, A.2
White, M.P.3
Cooke, A.4
Wilkinson, A.G.5
Robertson, K.J.6
Tolmie, J.L.7
-
24
-
-
0031759339
-
Uniparental disomy for chromosome 6 results in steroid 21-hydroxylase deficiency: Evidence of different genetic mechanisms involved in the production of the disease
-
Lopez-Gutierrez AU, Riba L, Ordonez-Sanchez ML, Ramirez-Jimenez S, Cerrillo-Hinojosa M, Tusie-Luna MT 1998 Uniparental disomy for chromosome 6 results in steroid 21-hydroxylase deficiency: evidence of different genetic mechanisms involved in the production of the disease [In Process Citation]. J Med Genet 35:1014-1019
-
(1998)
J Med Genet
, vol.35
, pp. 1014-1019
-
-
Lopez-Gutierrez, A.U.1
Riba, L.2
Ordonez-Sanchez, M.L.3
Ramirez-Jimenez, S.4
Cerrillo-Hinojosa, M.5
Tusie-Luna, M.T.6
-
25
-
-
0029127391
-
Early growth is not increased in untreated moderately severe 21-hydroxylase deficiency
-
Thilen A, Woods KA, Perry LA, Savage MO, Wedell A, Ritzen EM 1995 Early growth is not increased in untreated moderately severe 21-hydroxylase deficiency [see comments]. Acta Paediatr 84:894-898
-
(1995)
Acta Paediatr
, vol.84
, pp. 894-898
-
-
Thilen, A.1
Woods, K.A.2
Perry, L.A.3
Savage, M.O.4
Wedell, A.5
Ritzen, E.M.6
-
26
-
-
0027473988
-
Multiplex PCR of three dinucleotide repeats in the Prader-Willi/ Angelman critical region (15q11-q13): Molecular diagnosis and mechanism of uniparental disomy
-
Mutirangura A, Greenberg F, Butler MG, Malcolm S, Nicholls RD, Chakravarti A, Ledbetter DH 1993 Multiplex PCR of three dinucleotide repeats in the Prader-Willi/ Angelman critical region (15q11-q13): molecular diagnosis and mechanism of uniparental disomy. Hum Mol Genet 2:143-151
-
(1993)
Hum Mol Genet
, vol.2
, pp. 143-151
-
-
Mutirangura, A.1
Greenberg, F.2
Butler, M.G.3
Malcolm, S.4
Nicholls, R.D.5
Chakravarti, A.6
Ledbetter, D.H.7
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